Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7888809T>C , CM000682.2:g.7888809T>C | GRCh38 |
| NC_000020.10:g.7869456T>C , CM000682.1:g.7869456T>C | GRCh37 |
| NC_000020.9:g.7817456T>C | NCBI36 |
| NG_046733.1:g.56638A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017545.3:c.814-2945A>G MANE Select | NP_060015.1:n.814-2945A>G |
| ENST00000378789.4:c.814-2945A>G MANE Select | ENSP00000368066.3:n.814-2945A>G |
| NM_017545.2:c.814-2945A>G | NP_060015.1:n.814-2945A>G |
| ENST00000378789.3:c.814-2945A>G | ENSP00000368066.3:n.814-2945A>G |